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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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AR-CMT2 with acrodystrophy
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Orphanet_90119 |
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HMSN with acrodystrophy
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Orphanet_90119 |
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Peripheral neuropathy and optic atrophy
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Orphanet_90120 |
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Hereditary motor and sensory neuropathy type 6
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Orphanet_90120 |
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Hereditary motor and sensory neuropathy type VI
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Orphanet_90120 |
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Hereditary motor and sensory neuropathy with acrodystrophy
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Orphanet_90119 |
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Hereditary motor and sensory neuropathy, Okinawa type
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Orphanet_90117 |
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Hereditary motor and sensory neuropathy, proximal type
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Orphanet_90117 |
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Severe early-onset axonal neuropathy due to MFN2 deficiency
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Orphanet_90118 |
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Lipoatrophy caused by injected drug
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Orphanet_90157 |
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Autosomal dominant intermediate Charcot-Marie-Tooth disease
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Orphanet_90114 |
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Pressure-induced localized lipoatrophy
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Orphanet_90160 |
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Drug-induced localized lipodystrophy
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Orphanet_90157 |
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Idiopathic localized lipodystrophy
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Orphanet_90158 |
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Panniculitis-induced localized lipodystrophy
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Orphanet_90159 |
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